Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001704320 | SCV000527951 | likely benign | not provided | 2018-08-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000898742 | SCV001042965 | likely benign | Pyruvate dehydrogenase E2 deficiency | 2023-06-21 | criteria provided, single submitter | clinical testing |